not to know whether I want to know, if knowing wouldn't necesarily save my life

[BreastmilkDoesAFabLatte]

Supposing there's a chance you have a rare heart defect which may cause sudden death. And supposing that, even if said heart defect were diagnosed, there might be nothing that could be done to prevent sudden death.

Would you want to know?

(I'm in this position myself and don't have a clue what to do. Please be gentle...)

Sorry you are going through this

I would want to know because you only said "might be nothing" not "would be nothing" that can be done.

My neice has a mild heart defect. She is also very tall and thin. Several people mentioned Marfan Syndrome to my Sister, as other things about her fitted it too. This can cause sudden death in the forties if not diagnosed and monitored. It's a syndrome which only gets diagnosed by a Specialist's opinion; there are no genetic tests available. The specialist thought No, which does not mean that her heart defect goes away, it's just not down to Marfan Syndrome.

Getting to the point, my DS1 is also tall and thin and has increased joint mobility (another Marfan syndrome). If my DN had received a positive diagnosis I would have had him assessed too - just in case there was something, anything, that could be done to increase his life expectancy. (And I'd have asked for an opinion on myself too - even though they'd piss themselves laughng as I am only 5'4" - my fingers pass the test!)

So yeah, I'd want to know.

I started a similar thread recently (different medical condition and about getting my dc tested rather than me)

here

There were more varying viewpoints on mine iirc.

I am leaning towards finding out in our case but am going to try to get referred to an expert on the condition first (most GPs and local neurologists have never come across it so most of the info we have is gleaned from the internet at the moment...)

I am approaching it from the pov that there may be activities that they shouldn't do if they have this condition so want to find out to avoid taking unnecessary risks or wrapping them up in cotton wool unnecessarily.

You say that there might be nothing that could be done about this...does that mean that there is a chance they could do something about this?

I think I would want to know, as a previous poster said if you don't have it you are free to enjoy life, if you do have it maybe there is something they can do and you can make plans and prepare your DCs.

I am sorry you are going through this it I can't imagine what it must be like.

Just wrote a long reply and the server went down... argh. And I need to head off to work now, which in the context of all this seems so utterly trivial and pointless.

Briefly, though... I really appreciate all those who've shared their experience.

Will be back...

I'm sorry if you have already made up your mind, or in fact had a diagnosis...

But is there still a change you might not have this? Now that the question has been raised for you, won't you always be thinking 'what if' you do have it? To the point where you may convince yourself that you do, even if you don't.

I'm sorry that you are going through this. It's not the same, but I have a heart defect which is generally considered not too serious at the moment (but could change so I am familiar with the uncertainty). It can also be exacerbated during pregnancy. I'm now 20 weeks and under lots of monitoring. I also have to go for a foetal cardiac scan to see if there is anything wrong with the baby, which I am pretty worried about.

Honestly, I still think I am better off knowing.

BalloonSlayer There is a genetic test for Marfan Syndrome now - dh and dd (7) both have it, and had it confirmed by the test. We were also able to rule out ds (8) having it. Some specialists just aren't willing to offer genetic testing. If this is the case, you can ask to be referred to someone else. If you are having trouble, the Marfan Trust or Marfan Association should be able to help.

Sorry for the hijack there.

BDAFL, dh floated about for years with his condition and didn't bother going to check ups because he didn't think that they could do anything (the specialists had told MIL that dh wouldn't live past his early 30's).

It turned out that they were able to do something after all. He had surgery when dd was 8 weeks old. If he hadn't had the op then, he could have died of an aortic dissection. Dh is now 41.

breastmilk Have you been referred for genetic councelling? They talk through issues of testing and whether it is a good idea to find out or not.

I always knew there was a genetic condition in my family, which my father died from just before I was born, yet chose not to find out whether I had the condition. My decision seems to go against what most people have said to you so far. I found out I had the condition when I collapsed and 5 weeks later had a liver transplant (an option not available when my dad died). I remain happy with my decision not to find out. In my case there was no treatment and nothing could have been gained from finding out.

Your situation is different and if there is treatment available then it may be in your best interests to know.

Hope you get help you need to make a decision.

Again, thank you all.

As far as I know, it isn't genetic. And even if it is... well, it seems as though it only kills people in their 30s and upwards. Well, as far as information is available, which is not much. But the though of me having passed this all on to DD...

Glad the thread has helped even a tiny bit, BM.

Thank you deepbreath I shall tell my DSis that. She was told it was only diagnosed through "clinical opinion." Maybe that was a stage you had to get through before they would consider genetic testing.

TBH I don't think my DN has it. She is just tall. Other things don't fit - your armspan is supposed to be more than your height IIRC. Her hands may fit the criteria a bit - mine can "do the tricks" - but our hands look nothing like the hands of people with Marfan syndrome.

Thank you for your helpful information. I hope your DDs are OK.

Sorry I read "DH and DD" as "DD1 and DD2" for some reason. I was wondering if your DH had it too. Hope he is ok now too.

BDAFL - would it help to talk to someone before you go on with the investigations?

Have you heard of CRY? You might find them helpful.

My dd has a heart defect that even now she has had a partial repair, can cause sudden death - it's a tough thing to live with. I'm sorry that you're facing it. Only you can make the decision about being tested but you need to get more information about the tests etc. There are very few heart tests that are invasive, painful or risky so don't be afraid of that; there may not be any treatment at the moment but there may be in the future and having a diagnosis would mean you are best placed to access that. And best placed to acces the proper care you may (or may not) need during pregnancy. Please see if you can access a cardiologist that does not just deal with aquired heart disease. The GUCH organisation can point you in the right direction.

CC I'm sorry your DD is in this position.

I hate to say it, but CRY were useless. As soon as I mentioned to them that I'm BFing and want more kids, they couldn't get my off the phone and onto the mailing list fast enough. I couldn't even seem to convey that the leaflets they wanted to send me were irrelevant. Maybe I got them on a bad day.

But yes I've been on the GUCH site. It makes me cry and cry.

In terms of talking to people, the only one who's been any real help is the cardiologist himself, who is absolutely brilliant. Whenever I've asked others I tend to get fobbed off with the "oh your GP/HV must see hundreds of women in your position each year" type responses. And then I get accused of exaggerating sypmtoms because I'm "too young" and then they call Social Services

I think so many people out there as so threatened by the lack of an easy straightword answer or predictable outcome, and offer dishonest platitutes simply because they can't bear to think about death. And when I tell them I don't find it helpful, they just shut off. And then I end up reassuring them that I'm less afraid of death than they are.

Sorry, rant over. Crap night.

I'm sorry that CRY weren't helpful dd is just a GUCH now so I've been on there a few times - there are many positive stories.

I think that people generally just want to fix things you know and they flounder when they can't. And I take your point earlier on in the thread about people saying - 'my 2nd cousin once removed had that and he's fine'. Sometimes it's helpful and reassuring - sometimes it's not and sometimes you just want to shout 'FGS it's not the same thing!'

I think (FWIW) that you have to ask yourself if you can go on like this with the doubt in your mind. You've had a rubbish night, how many more will you have? As things stand can you box it off in your mind and not think about it? I'd say that's doubtful, so if you're going to be stressed, be informed and stressed. You're worrying about something that you may not even have, thinking something is inevitable when it possibly isn't. We're all individuals though - I have to know everything about what's going on with dd - maybe I'd be different if it was me though. Who knows? And we have rubbish days onbviously - she's gone to Alton Towers today with her new fella - she'll be on all the big rides which she absolutely shouldn't be but her current mode of thinking is 'sod it, life's to be enjoyed, you only get one'. [gulp] Meanwhile I've got that sick in the stomach feeling.

So, so true. Thank you.

Again, I'm sorry that you're in this situation with your daughter... really sorry.

once you know there is a chance of something you cannot save yourself any worry by not knowing for definite

it is the potential knowledge that does the harm

so at the moment you have the chance of having something to worry about - which you willl worry about

if you get tested you have two potential outcomes

1. the chance of having nothing to ever worry about
2. the chance of having something to worry abotu

point 2 takes you back to the start again of the worry plus alittle more but then you can have counselling to deal so all you have is something to gain for having the test

living in limbo is no way to live - i speak from experience

medicine changes all the time - even if there is nothing much you can do about this condition now, knowing you have it would enable to you be early adopter on any new treatments that come out.

if you don't know, chances may pass you by.

Hey, don't be sorry. dd would hate it

Hope you get good news and if not - well you're no worse off than you are right now. Let us know how it goes. Take care.

Thank you, all of you...

I've emailed the consultant (that I can email him is fab) asking for the tests... OMG.

Realistically, I think it will take several months to arrange. But that's probably a good thing in ensuring that I'm definate about wanting to go through with this.

Wow BM, well done on making such a massive decision. Hope it leads to some reassurance.

Oh fuck. I've just scared the shit out of myself looking up the protocol for the testing.

I can't go through with it. I can't.

What scares you about the testing itself?

I have PTSD as well. TMI for online, but

What tests will you need?
An ECG and echo first- both are non-invasive.
Then perhaps a TOE, which is a little more complicated as it is invasive, but would be done under conscious sedation, and is over pretty quickly.

It might help you to read the whole thread... I've explained already why I'm a bit reluctant providing details, which is essentially as I'd rather the family of someone recently deceased weren't able to identify me. But as a quick answer, I've already been through the stage of all possible forms of ECGs and echos...